NM_003611.3(OFD1):c.231A>C (p.Leu77Phe) AND Orofaciodigital syndrome I

Clinical significance:Uncertain significance (Last evaluated: Jun 20, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000146982.2

Allele description [Variation Report for NM_003611.3(OFD1):c.231A>C (p.Leu77Phe)]

NM_003611.3(OFD1):c.231A>C (p.Leu77Phe)

Gene:
OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe)
HGVS:
  • NC_000023.11:g.13736597A>C
  • NG_008872.1:g.6885A>C
  • NG_011555.1:g.3027T>G
  • NM_001330209.2:c.231A>C
  • NM_001330210.2:c.-315A>C
  • NM_003611.3:c.231A>CMANE SELECT
  • NP_001317138.1:p.Leu77Phe
  • NP_003602.1:p.Leu77Phe
  • NC_000023.10:g.13754716A>C
  • NM_003611.2:c.231A>C
Protein change:
L77F
Links:
dbSNP: rs587784232
NCBI 1000 Genomes Browser:
rs587784232
Molecular consequence:
  • NM_001330210.2:c.-315A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001330209.2:c.231A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003611.3:c.231A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Orofaciodigital syndrome I (OFD1)
Synonyms:
OFDS I; Orofaciodigital syndrome 1; OFD syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010702; MedGen: C1510460; Orphanet: 2750; OMIM: 311200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000194318Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Uncertain significance
(Jun 20, 2013)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000194318.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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